VAX1, ventral anterior homeobox 1, 11023

N. diseases: 25; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
MICROPHTHALMIA, SYNDROMIC 11 		0.700 Biomarker disease CTD_human
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
MICROPHTHALMIA, SYNDROMIC 11 		0.700 CausalMutation disease CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.110 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C3553078
Disease: Agenesis of pineal gland
Agenesis of pineal gland 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease BEFREE Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. 28771384 2017
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 Biomarker disease BEFREE Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. 28771384 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.020 GeneticVariation disease BEFREE VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. 28771384 2017
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.110 GeneticVariation disease BEFREE VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese. 30048854 2018
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 GeneticVariation phenotype BEFREE VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese. 30048854 2018
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 Biomarker disease BEFREE After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP). 28662356 2017
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.010 Biomarker disease BEFREE Furthermore, we are able to confirm previous results that the Vax1 gene is involved in Septo-Optic Dysplasia and suggest Gdf6 and Marcks as further potential candidates. 22719993 2012
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.110 GeneticVariation disease GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 GeneticVariation disease GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.010 Biomarker disease BEFREE However, Shh was also reduced in this region, suggestive of a Shh-Vax1 feedback loop during early development of the forebrain and a likely mechanism for the underlying lobar holoprosencephaly. 28771384 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.020 Biomarker disease BEFREE Human genotype-phenotype analysis revealed that variants in five human homologous CP genes (IRF6, FOXE1, VAX1, WNT9B, and GAD1) significantly contributed to the human CP phenotype. 29475039 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 GeneticVariation disease BEFREE In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate, and corpus callosum agenesis. 22095910 2012
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 GeneticVariation disease BEFREE In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate, and corpus callosum agenesis. 22095910 2012
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 PosttranslationalModification disease BEFREE In addition, the methylation of VAX1 and LMX1A was found to be associated with BC recurrence. 22529986 2012
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 PosttranslationalModification disease BEFREE In addition, the methylation of VAX1 and LMX1A was found to be associated with BC recurrence. 22529986 2012